All transcript variants in gene CTPS2

The variants shown are described using the NM_019857.3 transcript reference sequence.

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Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".

DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.

Freq. EA: Frequency in which the variant was found in the European American population; e.g. 5/760 (in 5 of 760 chromosomes tested).

Freq. AA: Frequency in which the variant was found in the African American population; e.g. 5/760 (in 5 of 760 chromosomes tested).

1 entry on 1 page. Showing entry 1.

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